Linked Data
ClinVar Variation Id:
64510
ClinVar RCV Id:
RCV000054697
dbSNP Id:
rs387907521
gnomAD v4:
7-151075347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151075347C>T , CM000669.2:g.151075347C>T | GRCh38 |
| NC_000007.13:g.150772434C>T , CM000669.1:g.150772434C>T | GRCh37 |
| NC_000007.12:g.150403367C>T | NCBI36 |
| NG_051947.1:g.22148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.3140C>T MANE Select | ENSP00000405600.2:p.Ala1047Val | |
| ENST00000677246.1:c.*276C>T | ENSP00000504447.1:n.*276C>T | |
| ENST00000310317.9:c.2894C>T | ENSP00000311402.5:p.Ala965Val | |
| ENST00000392826.6:c.3113C>T | ENSP00000376571.2:p.Ala1038Val | |
| ENST00000413384.6:c.3140C>T | ENSP00000405600.2:p.Ala1047Val | |
| ENST00000461735.1:c.3098C>T | ENSP00000419164.1:p.Ala1033Val | |
| ENST00000485713.5:c.3140C>T | ENSP00000419412.1:p.Ala1047Val | |
| NM_001199692.1:c.3140C>T | NP_001186621.1:p.Ala1047Val | |
| NM_001199693.1:c.3113C>T | NP_001186622.1:p.Ala1038Val | |
| NM_001199694.1:c.3098C>T | NP_001186623.1:p.Ala1033Val | |
| NM_003040.3:c.3140C>T | NP_003031.3:p.Ala1047Val | |
| XM_011516497.1:c.3140C>T | XP_011514799.1:p.Ala1047Val | |
| NM_001199692.2:c.3140C>T | NP_001186621.1:p.Ala1047Val | |
| NM_001199694.2:c.3098C>T | NP_001186623.1:p.Ala1033Val | |
| NM_003040.4:c.3140C>T MANE Select | NP_003031.3:p.Ala1047Val | |
| NM_001199692.3:c.3140C>T | NP_001186621.1:p.Ala1047Val |